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The purpose of the project is to obtain skin and adipose tissue samples from patients with ALS to develop new diagnostic and prognostic markers of the disease. These samples will be obtained when percutaneous endoscopic gastrostomy (PEG) is performed as part of their standard of care. Skin and adipose tissue samples will also be obtained from disease control subjects who require a PEG as part of their standard of care.

Condition or disease

Amyotrophic Lateral Sclerosis

Detailed Description:

Subjects who are undergoing a percutaneous endoscopic gastrostomy (PEG) tube insertion as part of their standard of care will be asked if a skin and adipose sample may be collected for research during the procedure. After a participant has signed the informed consent, the sub-investigator from the Department of Gastroenterology will collect a skin and adipose sample during the procedure. Individuals with a diagnosis of definite ALS and disease controls (i.e. stroke, head and neck cancer, spinal cord injury, etc.) will be included in this study.

The coded skin and adipose sample will be taken to the Carolinas Neuromuscular/ALS Research Laboratory in the Cannon Research Center for processing. The skin and adipose will be separated from each other and divided into halves. Each half of skin and adipose will be submerged in preservative and either shipped to ALS-TDI or retained at -80°C in the Carolinas Neuromuscular/ALS Research Laboratory. The research staff at the Carolinas Neuromuscular/ALS-MDA Center will be responsible for shipping the sample to the ALS-TDI for either RNA isolation using the Qiagen RNAEasy kit (Qiagen) or for purification of protein. Subsequently, gene expression profiling on Affymetrix Genechips or Mass Spec based proteomics on a Thermo Orbitrap LC-MS/MS instrument will be performed, respectively. The discovery effort (if all participants are working at capacity) should not take more than 12 months.

In addition to the above procedures, a member of the study team will review the medical chart to obtain additional information on the participant's medical and family history. For ALS patients, past ALSFRS-R scores or FVC scores will be provided to the "ALS-TDI Skin and Adipose Biomarker Study" to enhance the usefulness of the information for research.

Samples will not be stored with any patient identifiers. Samples will be retained and continued to be studied as new techniques become available. Data from the study may be published in scientific journals. Publications will not include any patient identifiers.

Abundance levels of the known messenger RNA transcriptome of skin and adipose tissue samples (measured by gene expression profiling) [ Time Frame: After tissue has been collected from study subjects. Data will be analyzed at 1 year. ]

Skin and adipose samples will be collected and processed into total RNA. Probes will be synthesized from these total RNAs and hybridized to HgU133ver2.0 Affymetrix genechips. These genechips contain probe sets that measure the abundance levels of the known human transcriptome.

Changes in abundance of or post-translational modification of proteins (measured by proteomics) [ Time Frame: After tissue has been collected from study subjects. Data will be analyzed at year 1 after primary outcome data has been reviewed and analyzed. ]

Skin and adipose samples will be collected for down stream proteomics analysis. The 14 most abundant proteins will be removed using commercially available depletion columns (Agilent). Removal of these proteins yields higher resolution and sensitivity in subsequent chromatography steps. Proteins will be separated by 2 and 3 dimensional liquid chromatography followed by MS/MS based peptide quantitation and sequencing on a Thermo Orbitrap.

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Layout table for eligibility information

Ages Eligible for Study:

19 Years and older (Adult, Older Adult)

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

No

Sampling Method:

Non-Probability Sample

Study Population

Patients at the Carolinas Neuromuscular/ALS-MDA Center and patients at Carolinas Medical Center.

Criteria

Inclusion Criteria:

for ALS patients, subjects must be diagnosed with definite ALS according to the El Escorial Criteria (EEC)

all subjects must be diagnosed with a condition requiring PEG (percutaneous endoscopic gastrostomy) tube insertion